A novel Asp380Ala mutation in the GLC1A/myocilin gene in a family with juvenile onset primary open angle glaucoma

Journal of Medical Genetics

Volumn 35, Issue 11, 1998, Pages 957-960

  Kennan, Avril M ^a   Mansergh, Fiona C ^a   Fingert, John H ^b   Clark, Tamara ^b   Ayuso, Carmen ^c   Kenna, Paul F ^a,d   Humphries, Peter ^a   Farrar, G Jane ^a  

^a TRINITY COLLEGE DUBLIN   (Ireland)

^b UNIVERSITY OF IOWA   (United States)

^c Hospital UniversitarioFundación Jiménez Díaz   (Spain)

^d Dept Otolaryngol Hd Neck Surg   (Ireland)

Author keywords

Glaucoma; Myocilin; TIGR

Indexed keywords

ALANINE; ASPARTIC ACID;

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHROMOSOME 1Q; CODON; CONTROLLED STUDY; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; NUCLEIC ACID BASE SUBSTITUTION; OPEN ANGLE GLAUCOMA; PRIORITY JOURNAL; RESTRICTION SITE; TRABECULAR MESHWORK;

EID: 0031765882     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.35.11.957     Document Type: Article

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